| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MGAM_chr7_141990879_142111747 | 142043727 | ATATAATA others(179): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01993.hp2 HG02300.hp2 |
a0001 | a0001c0010a0001c0056a0001c0102 | a0001c0010t0001a0001c0056t0001a0001c0102t0001 | a0001c0010t0001g0021a0001c0056t0001g0277a0001c0102t0001g0113 | 3 | 316 | 0.0095 | -186 | c.249 others(19): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MYO1F_chr19_8515778_8582442 | 8543654 | CTGGTGGT others(179): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0007 | a0001c0002t0005g0254a0001c0002t0007g0342 | 2 | 342 | 0.0059 | -186 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543690 | GTGGTGGT others(179): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0306 | 1 | 342 | 0.0029 | -186 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57688205 | TATATGTG others(179): Show |
T | downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325 | 1 | 352 | 0.0028 | -186 | c.*37 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2842 | chr15 | TogoVar | ||||||
| NALF1_chr13_107158510_107872496 | 107494033 | GATTTCAG others(179): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0031a0001c0001t0059others(10): Show | a0001c0001t0013g0068a0001c0001t0031g0017a0001c0001t0059g0036others(10): Show | 13 | 128 | 0.1016 | -186 | c.916 others(21): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
| NDC80_chr18_2566557_2621635 | 2614471 | GAAAGAAA others(179): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(213): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0001a0005c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(205): Show | 216 | 402 | 0.5373 | -186 | c.179 others(19): Show |
NDC80 | ENSG00000080986.13 | transcript | ENST00000261597.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NOL10_chr2_10565754_10694975 | 10587074 | TATACATA others(179): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG03195.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008 | 3 | 372 | 0.0081 | -186 | c.184 others(19): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 19/20 | chr2 | TogoVar | ||||||
| OPCML_chr11_132409981_133537501 | 133055283 | ACCTCTAT others(179): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 68 | 0.0147 | -186 | c.62- others(19): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| OR1N1_chr9_122521358_122532293 | 122532017 | GGGGGCCT others(179): Show |
G | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0008 | a0001c0008t0000 | a0001c0008t0000g0000 | 3 | 452 | 0.0066 | -186 | c.-49 others(11): Show |
OR1N1 | ENSG00000171505.6 | transcript | ENST00000304880.2 | protein_coding | 4725 | chr9 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510907 | TATGTATA others(179): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0006 | a0001c0006t0049 | a0001c0006t0049g0211 | 1 | 244 | 0.0041 | -186 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PARD3B_chr2_204540475_205625162 | 204648652 | AATATATT others(179): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02965.hp1 |
a0005a0010 | a0005c0013a0010c0027 | a0005c0013t0001a0010c0027t0015 | a0005c0013t0001g0001a0010c0027t0015g0003 | 2 | 54 | 0.0370 | -186 | c.121 others(19): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PDGFC_chr4_156755454_156976799 | 156759646 | AACCAAAC others(179): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01099.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0053a0001c0001t0014g0054 | 2 | 208 | 0.0096 | -186 | c.*32 others(11): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 807 | chr4 | TogoVar | ||||||
| PEX5_chr12_7184686_7216459 | 7196786 | GTAATAAT others(179): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG02074.hp2 HG06807.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0002c0002t0009others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0063a0001c0001t0001g0066others(7): Show | 13 | 428 | 0.0304 | -186 | c.449 others(17): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PIF1_chr15_64810632_64830647 | 64826430 | TCCTTTCC others(179): Show |
T | upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 348 | 0.0029 | -186 | c.-10 others(10): Show |
PIF1 | ENSG00000140451.13 | transcript | ENST00000559239.2 | protein_coding | 784 | chr15 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50433295 | CATGGATG others(179): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02015.hp1 |
a0001a0014 | a0001c0001a0014c0022 | a0001c0001t0007a0014c0022t0002 | a0001c0001t0007g0096a0014c0022t0002g0121 | 2 | 340 | 0.0059 | -186 | c.140 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50433301 | TGCTGGGC others(179): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(143): Show |
a0001a0005a0006others(5): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(28): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0223others(143): Show | 146 | 340 | 0.4294 | -186 | c.140 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50433822 | CCTGGAGG others(179): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0009 | a0009c0030 | a0009c0030t0027 | a0009c0030t0027g0069 | 1 | 340 | 0.0029 | -186 | c.140 others(18): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50434033 | CGGGGGCG others(179): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 340 | 0.0029 | -186 | c.140 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50434065 | TTTGCCCT others(179): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG03669.hp1 NA19086.hp1 |
a0001a0014 | a0001c0003a0014c0022 | a0001c0003t0002a0001c0003t0010a0014c0022t0002 | a0001c0003t0002g0119a0001c0003t0010g0214a0014c0022t0002g0121 | 3 | 340 | 0.0088 | -186 | c.140 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PRAG1_chr8_8312736_8391439 | 8336668 | AGGTTTTC others(179): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235a0002c0002t0001g0258 | 2 | 336 | 0.0060 | -186 | c.232 others(19): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 4/5 | chr8 | TogoVar | ||||||
| PRB2_chr12_11386540_11400567 | 11393003 | CACTTCGG others(179): Show |
C | conservative_inframe_deletion | MODERATE | HG01884.hp2 HG03139.hp2 NA21309.hp2 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0021 | 3 | 410 | 0.0073 | -186 | c.889 others(8): Show |
p.Ser others(13): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 3/4 | 1112/1431 | 889/1251 | 297/416 | chr12 | TogoVar | ||
| PRB2_chr12_11386540_11400567 | 11393206 | CCTCCTTG others(179): Show |
C | disruptive_inframe_deletion | MODERATE | NA18990.hp1 NA19056.hp1 |
a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0032 | 2 | 410 | 0.0049 | -186 | c.686 others(7): Show |
p.Asp others(13): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 3/4 | 909/1431 | 686/1251 | 229/416 | chr12 | TogoVar | ||
| PRDM15_chr21_41793225_41884344 | 41806060 | TCACCATC others(179): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0055 | a0001c0055t0005 | a0001c0055t0005g0121 | 1 | 406 | 0.0025 | -186 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
| PVALB_chr22_36795703_36822035 | 36800143 | TCATCTAC others(179): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0002g0092 | 2 | 421 | 0.0048 | -186 | c.*56 others(9): Show |
PVALB | ENSG00000100362.13 | transcript | ENST00000417718.7 | protein_coding | 559 | chr22 | TogoVar | ||||||
| PXMP2_chr12_132682587_132709985 | 132693138 | CAGTTAGT others(179): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0080 | 1 | 350 | 0.0029 | -186 | c.237 others(17): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 481537 | AGCAAGCT others(179): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02027.hp1 NA18973.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0239a0001c0001t0006g0196a0001c0001t0006g0238others(1): Show | 4 | 295 | 0.0136 | -186 | c.904 others(15): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114006981 | GCCACCTT others(179): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0053 | 1 | 67 | 0.0149 | -186 | c.174 others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| RBM10_chrX_47140221_47191813 | 47148585 | TATGTATC others(179): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 226 | 0.0044 | -186 | c.17+ others(15): Show |
RBM10 | ENSG00000182872.16 | transcript | ENST00000377604.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RIMBP2_chr12_130391133_130721299 | 130482867 | TTGTGTGT others(179): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0118 | 1 | 180 | 0.0056 | -186 | c.-3- others(15): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3090826 | ACCTACCT others(179): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 340 | 0.0029 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3091074 | GCCTACCT others(179): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02165.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0001g0066a0001c0001t0001g0148a0001c0001t0001g0178others(7): Show | 10 | 340 | 0.0294 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3091660 | CGCGCCTA others(179): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 340 | 0.0029 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3091815 | CGCGCCTA others(179): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01169.hp1 HG01515.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0018others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0065others(11): Show | 14 | 340 | 0.0412 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092001 | AGCGCCTA others(179): Show |
A | intron_variant | MODIFIER | HG02735.hp1 NA18955.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040a0001c0002t0002g0273 | 2 | 340 | 0.0059 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092488 | GAACCGCA others(179): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 340 | 0.0029 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092581 | GAACCGCA others(179): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG02970.hp1 NA18971.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0048a0001c0001t0001g0088a0001c0001t0001g0103others(4): Show | 7 | 340 | 0.0206 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3093170 | TAACCGCA others(179): Show |
T | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0308 | 1 | 340 | 0.0029 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3093179 | CGCGCCTA others(179): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03669.hp1 HG03927.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0155a0001c0001t0010g0278others(1): Show | 4 | 340 | 0.0118 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3093582 | AGCGCCTA others(179): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 340 | 0.0029 | -186 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RNF213_chr17_80255852_80403794 | 80260541 | CCGGCGGC others(179): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0037 | a0037c0145 | a0037c0145t0035 | a0037c0145t0035g0174 | 1 | 292 | 0.0034 | -186 | c.-46 others(9): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 310 | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80260571 | CCGGCGGC others(179): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00738.hp1 others(22): Show |
a0001a0002a0007others(10): Show | a0001c0001a0001c0004a0002c0002others(12): Show | a0001c0001t0002a0001c0004t0014a0002c0002t0004others(15): Show | a0001c0001t0002g0115a0001c0001t0002g0131a0001c0001t0002g0157others(22): Show | 25 | 292 | 0.0856 | -186 | c.-43 others(9): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 280 | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80260601 | CCGGCGGC others(179): Show |
C | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02083.hp2 NA18947.hp2 others(2): Show |
a0001a0004a0027others(1): Show | a0001c0001a0004c0009a0027c0025others(1): Show | a0001c0001t0001a0004c0009t0005a0027c0025t0013others(2): Show | a0001c0001t0001g0261a0004c0009t0005g0273a0027c0025t0013g0260others(2): Show | 5 | 292 | 0.0171 | -186 | c.-40 others(9): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 250 | chr17 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80260631 | CCGGCGGC others(179): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01071.hp1 others(15): Show |
a0001a0002a0007others(5): Show | a0001c0001a0001c0003a0001c0124others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0075others(12): Show | a0001c0001t0001g0128a0001c0001t0001g0133a0001c0001t0001g0288others(15): Show | 18 | 292 | 0.0616 | -186 | c.-37 others(9): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 220 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 334696 | AGGACAGG others(179): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01943.hp1 HG01978.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0110a0001c0001t0002g0010a0001c0001t0002g0052others(10): Show | 13 | 133 | 0.0977 | -186 | c.-21 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
| SCN11A_chr3_38840764_39056944 | 38877020 | TGTATATA others(179): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0276a0001c0001t0003g0286 | 2 | 314 | 0.0064 | -186 | c.339 others(19): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | ||||||
| SCN11A_chr3_38840764_39056944 | 38877052 | CTATATAT others(179): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0299 | 1 | 314 | 0.0032 | -186 | c.339 others(19): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288775 | CCGTGTCT others(179): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 290 | 0.0035 | -186 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289617 | CCGTGTCT others(179): Show |
C | intron_variant | MODIFIER | NA18964.hp2 NA18998.hp2 NA19067.hp2 others(1): Show |
a0003a0022 | a0003c0004a0022c0040 | a0003c0004t0003a0022c0040t0012 | a0003c0004t0003g0133a0003c0004t0003g0135a0003c0004t0003g0153others(1): Show | 4 | 290 | 0.0138 | -186 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCUBE1_chr22_43192280_43348372 | 43280983 | TCCTCAGT others(179): Show |
T | intron_variant | MODIFIER | NA18747.hp2 NA18943.hp2 NA18954.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0001a0003c0007 | a0002c0002t0001a0002c0002t0061a0003c0001t0001others(2): Show | a0002c0002t0001g0122a0002c0002t0061g0176a0003c0001t0001g0196others(4): Show | 7 | 280 | 0.0250 | -186 | c.484 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
| SH3PXD2B_chr5_172328499_172459525 | 172368466 | TATTATAT others(179): Show |
T | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0169 | 1 | 280 | 0.0036 | -186 | c.427 others(17): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar |